Y82N (p.Tyr82Asn) variant of KCNQ2 (O43526)
Y82N (p.Tyr82Asn) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
Y82N (p.Tyr82Asn) variant details
- p.Tyr82Asn
- rs1600885336
- ClinGen CA409635086
- ClinVar RCV006464339
- Ensembl rs1600885336
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- REVEL 0.75
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available